DHDDS 缺陷导致 RP59
中文名称
通路描述
DHDDS 是内质网膜相关酶，正常介导多个异戊二烯焦磷酸（IPP）分子以 farnesyl pyrophosphate（E,E-FPP）为底物进行顺式头对尾多次添加，产生多烯醇焦磷酸（pPPP）（Shridas 等，2003）。人类中的胆碱含有 17-23 个异戊二烯单元的同源物，最常见的同源物含有 19 或 20 个异戊二烯单元（Freeman 等，1980）。胆碱是蛋白质 N-糖基化的重要底物，包括视紫红质。DHDDS 缺陷导致视网膜色素变性 59（RP59；MIM:613861），这是一种色素性视网膜病变，特征为眼底检查可见的视网膜色素沉着和原发性视杆细胞丧失，随后是视锥细胞丧失。患者通常有夜盲和中至周边视力丧失。随着病情进展，他们逐渐丧失远端周边视力，最终丧失中心视力（Zuchner 等，2011）。
英文描述
Defective DHDDS causes RP59 The ER membrane-associated enzyme dehydrodolichyl diphosphate synthase (DHDDS) (Endo et al. 2003) normally mediates the sequential head-to-tail cis addition of multiple isopentyl pyrophosphate (IPP) molecules to farnesyl pyrophosphate (E,E-FPP) to produce polyprenol pyrophosphate (pPPP) (Shridas et al. 2003). Dolichol in humans contain homologues ranging from 17-23 isoprene units, the most common homologues contain 19 or 20 isoprene units (Freeman et al. 1980). Dolichol is an important substrate in the N-glycosylation of proteins, including rhodopsin.
Defects in DHDDS cause retinitis pigmentosa 59 (RP59; MIM:613861), a pigment retinopathy, characterised by retinal pigment deposits (visible on fundus examination) and primary loss of rod photoreceptors followed by secondary loss of cone photoreceptors. Sufferers typically have night vision blindness and loss of mid to peripheral vision. As the condition progresses, they lose far peripheral vision and eventually central vision (Zuchner et al. 2011).
Defects in DHDDS cause retinitis pigmentosa 59 (RP59; MIM:613861), a pigment retinopathy, characterised by retinal pigment deposits (visible on fundus examination) and primary loss of rod photoreceptors followed by secondary loss of cone photoreceptors. Sufferers typically have night vision blindness and loss of mid to peripheral vision. As the condition progresses, they lose far peripheral vision and eventually central vision (Zuchner et al. 2011).
所含基因
1 个基因